Megan Fowler

ALS/FTD-associated TDP-43 mutations promote fragility of genes governing excitatory neurotransmission via topoisomerase IIβ impairment

This paper shows that ALS/FTD-linked TDP-43 mutations cause DNA breaks in genes controlling excitatory neurotransmission by impairing topoisomerase IIβ function.

TDP-43 dysfunction leads to impaired proteostasis and predisposes mice to worse neurological outcomes after brain injury

This study shows that TDP-43 dysfunction impairs proteostasis and worsens neurological outcomes after brain injury in mice.

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

This study shows that ALS-linked PFN1 mutations impair vesicular degradation in iPSC-derived microglia by disrupting autophagy, which can be mitigated by Rapamycin.